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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: 17-46202822-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46202822&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 46202822,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001379198.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "NM_001379198.1",
"protein_id": "NP_001366127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1105,
"cds_start": null,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379198.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "NM_001405854.1",
"protein_id": "NP_001392783.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1105,
"cds_start": null,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405854.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "ENST00000572904.6",
"protein_id": "ENSP00000461484.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1105,
"cds_start": null,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572904.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "NM_001193465.2",
"protein_id": "NP_001180394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1104,
"cds_start": null,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193465.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "ENST00000574590.6",
"protein_id": "ENSP00000461812.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1104,
"cds_start": null,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574590.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "NM_001405859.1",
"protein_id": "NP_001392788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": null,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405859.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "ENST00000902801.1",
"protein_id": "ENSP00000572860.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": null,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902801.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "NM_001405861.1",
"protein_id": "NP_001392790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": null,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405861.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "NM_001405872.1",
"protein_id": "NP_001392801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1061,
"cds_start": null,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405872.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "ENST00000648792.1",
"protein_id": "ENSP00000497628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1061,
"cds_start": null,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648792.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "NM_001405875.1",
"protein_id": "NP_001392804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1042,
"cds_start": null,
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"cds_length": 3129,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405875.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "NM_001405879.1",
"protein_id": "NP_001392808.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1041,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405879.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "ENST00000575318.6",
"protein_id": "ENSP00000461299.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000575318.6"
},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 15,
"intron_rank": 2,
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"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
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"transcript": "NM_001405881.1",
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"biotype": "protein_coding",
"feature": "NM_001405881.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.23+20849A>G",
"hgvs_p": null,
"transcript": "NM_001405882.1",
"protein_id": "NP_001392811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001405882.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.23+20849A>G",
"hgvs_p": null,
"transcript": "NM_001405883.1",
"protein_id": "NP_001392812.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001405883.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.23+20849A>G",
"hgvs_p": null,
"transcript": "NM_001405884.1",
"protein_id": "NP_001392813.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001405884.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.23+20849A>G",
"hgvs_p": null,
"transcript": "NM_001405885.1",
"protein_id": "NP_001392814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": null,
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"cdna_start": null,
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"feature": "NM_001405885.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.23+20849A>G",
"hgvs_p": null,
"transcript": "ENST00000639150.1",
"protein_id": "ENSP00000491906.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "ENST00000576739.2",
"protein_id": "ENSP00000459627.1",
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"feature": "ENST00000576739.2"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "XM_047435794.1",
"protein_id": "XP_047291750.1",
"transcript_support_level": null,
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"aa_length": 1105,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.-90+20849A>G",
"hgvs_p": null,
"transcript": "XM_011524628.4",
"protein_id": "XP_011522930.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1104,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524628.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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}
],
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}