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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: 17-46333520-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46333520&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 46333520,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_014834.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.4809+864T>C",
"hgvs_p": null,
"transcript": "NM_014834.4",
"protein_id": "NP_055649.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1700,
"cds_start": null,
"cds_end": null,
"cds_length": 5103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320254.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014834.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.4809+864T>C",
"hgvs_p": null,
"transcript": "ENST00000320254.5",
"protein_id": "ENSP00000326324.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1700,
"cds_start": null,
"cds_end": null,
"cds_length": 5103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014834.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320254.5"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "c.259+19300A>G",
"hgvs_p": null,
"transcript": "ENST00000434041.6",
"protein_id": "ENSP00000391751.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434041.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "n.*93+3752A>G",
"hgvs_p": null,
"transcript": "ENST00000572991.6",
"protein_id": "ENSP00000458681.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000572991.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.4809+864T>C",
"hgvs_p": null,
"transcript": "ENST00000393465.7",
"protein_id": "ENSP00000377108.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1635,
"cds_start": null,
"cds_end": null,
"cds_length": 4908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393465.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.1923+864T>C",
"hgvs_p": null,
"transcript": "ENST00000496930.5",
"protein_id": "ENSP00000437021.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": null,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496930.5"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "c.526-2922A>G",
"hgvs_p": null,
"transcript": "NM_001363805.1",
"protein_id": "NP_001350734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363805.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "c.259+19300A>G",
"hgvs_p": null,
"transcript": "NM_001103154.2",
"protein_id": "NP_001096624.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001103154.2"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "c.259+19300A>G",
"hgvs_p": null,
"transcript": "NM_001352769.1",
"protein_id": "NP_001339698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352769.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "c.259+19300A>G",
"hgvs_p": null,
"transcript": "ENST00000570618.6",
"protein_id": "ENSP00000459151.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570618.6"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "c.259+19300A>G",
"hgvs_p": null,
"transcript": "ENST00000656849.1",
"protein_id": "ENSP00000499587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000656849.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "c.260-2922A>G",
"hgvs_p": null,
"transcript": "NM_001330240.1",
"protein_id": "NP_001317169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": null,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330240.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.4704+1539T>C",
"hgvs_p": null,
"transcript": "XM_047437196.1",
"protein_id": "XP_047293152.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1665,
"cds_start": null,
"cds_end": null,
"cds_length": 4998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437196.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.4662+864T>C",
"hgvs_p": null,
"transcript": "XM_047437197.1",
"protein_id": "XP_047293153.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cds_length": 4956,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437197.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.4656+864T>C",
"hgvs_p": null,
"transcript": "XM_047437198.1",
"protein_id": "XP_047293154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1649,
"cds_start": null,
"cds_end": null,
"cds_length": 4950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437198.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.4527+864T>C",
"hgvs_p": null,
"transcript": "XM_047437200.1",
"protein_id": "XP_047293156.1",
"transcript_support_level": null,
"aa_start": null,
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"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_047437200.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.4509+864T>C",
"hgvs_p": null,
"transcript": "XM_047437199.1",
"protein_id": "XP_047293155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1600,
"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_047437199.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.4437+864T>C",
"hgvs_p": null,
"transcript": "XM_047437201.1",
"protein_id": "XP_047293157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1576,
"cds_start": null,
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"cds_length": 4731,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437201.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.2301+864T>C",
"hgvs_p": null,
"transcript": "XM_047437205.1",
"protein_id": "XP_047293161.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047437205.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LRRC37A",
"gene_hgnc_id": 29069,
"hgvs_c": "c.1923+864T>C",
"hgvs_p": null,
"transcript": "XM_047437206.1",
"protein_id": "XP_047293162.1",
"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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"biotype": "protein_coding",
"feature": "XM_047437206.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "n.328-2922A>G",
"hgvs_p": null,
"transcript": "ENST00000575698.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000575698.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARL17B",
"gene_hgnc_id": 32387,
"hgvs_c": "n.586-2922A>G",
"hgvs_p": null,
"transcript": "ENST00000575960.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000575960.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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{
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"verdict": "Likely_benign",
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{
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"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}